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pseudoxanthoma elasticum

  1. Subject h.pseudoxanthoma elasticum
    Subject h.Pseudoxanthoma Elasticum
    Entry termsGrönbladovej-Strandbergov syndróm
    pseudoxantóm elastický
    English X referencesGronblad-Strandberg Syndrome
    Scope note in EnglishAn inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.
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